Novel gene mutation in von Hippel-Lindau disease – a report of two cases
Abstract Background Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different types of mutations manifest various clinical phenotypes, from benign to...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2019-12-01
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| Col·lecció: | BMC Medical Genetics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12881-019-0930-8 |
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